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Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA. Brunetti D, et al. Among authors: goffrini p. EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894. EMBO Mol Med. 2016. PMID: 26697887 Free PMC article.
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
Marzollo A, Zampieri S, Barozzi S, Yousaf MA, Quartararo J, De Rocco D, Faleschini M, Marconi C, Ceccatelli Berti C, Bozzi V, Russo G, Giordano P, Goffrini P, Bresolin S, Pastore A, Savoia A, Pecci A. Marzollo A, et al. Among authors: goffrini p. Br J Haematol. 2024 Jul;205(1):306-315. doi: 10.1111/bjh.19567. Epub 2024 May 30. Br J Haematol. 2024. PMID: 38815995
Current awareness on yeast.
Alberti A, Goffrini P, Ferrero I, Lodi T. Alberti A, et al. Among authors: goffrini p. Yeast. 2000 May;16(7):667-74. doi: 10.1002/(SICI)1097-0061(200005)16:7<657::AID-YEA560>3.0.CO;2-#. Yeast. 2000. PMID: 10806429
142 results